Mechanism:

  • SNP at the beginning of the coding region of the BDNF gene [R].

  • A signifies an amino acid change from water soluble to water insoluble residue [R], so the SNP may cause an alteration in protein folding. 

  • "A" Potentially causes loss of BDNF protein function [R].

  • G signifies normal BDNF production.

The A (minor) allele is associated with:

  • Idiopathic congenital central hypoventilation (AA) [R]. This is a rare disorder involving abnormal control of breathing not caused by neuromuscular or lung disease or an identifiable brain stem lesion. The disorder is also associated with a lack of involuntary respiration control when there is an inadequate response to high carbon dioxide/low oxygen levels [R].

  • A suggestion of longer life span aging [R].

  • Obesity [R].

  • Rare [R].

The G (major) allele is associated with:

  • No abnormal associations, very common [R].

 

rs8192466

Parent Gene: BDNF

Importance: 3
Less common allele: A = 0%
More common allele: G = 100%
My Genotype: Log In
Risk Allele: T
Significance: Pathogenic